Mutagenetix > Incidental Mutation

Incidental Mutation 'R9352:Srsf11'

708118

Institutional Source

Beutler Lab

Gene Symbol

Srsf11

Ensembl Gene

ENSMUSG00000055436

Gene Name

serine and arginine-rich splicing factor 11

Synonyms

Sfrs11, 2610019N13Rik, 0610009J05Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9352 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

157716552-157742311 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 157717836 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 414 (V414A)

Ref Sequence

ENSEMBL: ENSMUSP00000072651 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040787] [ENSMUST00000069025] [ENSMUST00000072875] [ENSMUST00000121326] [ENSMUST00000198705] [ENSMUST00000199727]

AlphaFold

E9Q6E5

Predicted Effect

probably benign
Transcript: ENSMUST00000040787

SMART Domains

Protein: ENSMUSP00000038662
Gene: ENSMUSG00000039988

Domain	Start	End	E-Value	Type
low complexity region	27	52	N/A	INTRINSIC
low complexity region	69	81	N/A	INTRINSIC
Blast:ANK	108	139	8e-10	BLAST
ANK	143	172	2.66e-5	SMART
ANK	176	205	1.97e1	SMART
Pfam:GPCR_chapero_1	259	533	2.2e-81	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000069025
AA Change: V438A

SMART Domains

Protein: ENSMUSP00000063916
Gene: ENSMUSG00000055436
AA Change: V438A

Domain	Start	End	E-Value	Type
low complexity region	64	88	N/A	INTRINSIC
low complexity region	91	114	N/A	INTRINSIC
low complexity region	186	264	N/A	INTRINSIC
low complexity region	271	310	N/A	INTRINSIC
low complexity region	328	335	N/A	INTRINSIC
low complexity region	365	374	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000072875
AA Change: V414A

SMART Domains

Protein: ENSMUSP00000072651
Gene: ENSMUSG00000055436
AA Change: V414A

Domain	Start	End	E-Value	Type
low complexity region	5	24	N/A	INTRINSIC
RRM	27	101	3.13e-7	SMART
low complexity region	117	141	N/A	INTRINSIC
low complexity region	144	167	N/A	INTRINSIC
low complexity region	239	317	N/A	INTRINSIC
low complexity region	327	409	N/A	INTRINSIC
low complexity region	428	435	N/A	INTRINSIC
low complexity region	465	474	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000121326
AA Change: V449A

SMART Domains

Protein: ENSMUSP00000113685
Gene: ENSMUSG00000055436
AA Change: V449A

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
low complexity region	40	59	N/A	INTRINSIC
RRM	62	136	3.13e-7	SMART
low complexity region	152	176	N/A	INTRINSIC
low complexity region	179	202	N/A	INTRINSIC
low complexity region	274	352	N/A	INTRINSIC
low complexity region	362	444	N/A	INTRINSIC
low complexity region	463	470	N/A	INTRINSIC
low complexity region	500	509	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000198705

SMART Domains

Protein: ENSMUSP00000142759
Gene: ENSMUSG00000055436

Domain	Start	End	E-Value	Type
low complexity region	81	175	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000199727

SMART Domains

Protein: ENSMUSP00000143432
Gene: ENSMUSG00000039988

Domain	Start	End	E-Value	Type
low complexity region	27	52	N/A	INTRINSIC
low complexity region	69	81	N/A	INTRINSIC
Blast:ANK	108	139	2e-9	BLAST
ANK	143	172	1.7e-7	SMART
ANK	176	205	1.3e-1	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: The protein encoded by this gene is a member of the serine/arginine (SR)-rich family of pre-mRNA splicing factors, which constitute part of the spliceosome. Each of these factors contains an RNA recognition motif (RRM) for binding RNA and an RS domain for binding other proteins. The RS domain is rich in serine and arginine residues and facilitates interaction between different SR splicing factors. In addition to being critical for mRNA splicing, the SR proteins have also been shown to be involved in mRNA export from the nucleus and in translation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl3	A	T	7: 82,091,656 (GRCm39)	Q123L	probably damaging	Het
Adarb2	T	A	13: 8,807,428 (GRCm39)	L743Q	probably damaging	Het
Alpk2	C	A	18: 65,439,783 (GRCm39)	D537Y	probably benign	Het
Anxa4	C	T	6: 86,742,775 (GRCm39)		probably benign	Het
Arfgap3	T	A	15: 83,191,127 (GRCm39)	I464L	possibly damaging	Het
Asb2	C	T	12: 103,296,698 (GRCm39)	V320I	probably damaging	Het
Axl	T	C	7: 25,462,752 (GRCm39)	T659A	possibly damaging	Het
Bbof1	A	G	12: 84,461,394 (GRCm39)	H139R	probably benign	Het
Birc6	G	A	17: 74,965,347 (GRCm39)		probably null	Het
Cdh23	G	A	10: 60,143,306 (GRCm39)	A3005V	possibly damaging	Het
Chil3	A	T	3: 106,067,787 (GRCm39)	F126Y	probably damaging	Het
Chrnb4	T	A	9: 54,951,167 (GRCm39)	D32V	probably benign	Het
Chst15	C	A	7: 131,872,257 (GRCm39)	C8F	probably damaging	Het
Cntnap5c	A	G	17: 58,399,463 (GRCm39)	I439V	probably benign	Het
Crisp2	T	A	17: 41,078,200 (GRCm39)	N194I	probably damaging	Het
Csrnp1	G	A	9: 119,801,997 (GRCm39)	T354M	probably benign	Het
Cul1	T	A	6: 47,479,426 (GRCm39)	S231T	probably benign	Het
Cyp27a1	C	T	1: 74,752,920 (GRCm39)	T44M	possibly damaging	Het
Dgkg	T	C	16: 22,398,581 (GRCm39)	D232G	probably damaging	Het
Dnah1	G	T	14: 31,038,620 (GRCm39)	Q154K	probably benign	Het
Dnmt1	A	G	9: 20,840,384 (GRCm39)	V304A	probably benign	Het
Dok6	T	C	18: 89,492,133 (GRCm39)	N148S	probably benign	Het
Fnta	A	T	8: 26,501,119 (GRCm39)	W134R	probably damaging	Het
Garin5b	T	A	7: 4,761,605 (GRCm39)	Y369F		Het
Gm32742	T	G	9: 51,052,544 (GRCm39)	Q1441P	possibly damaging	Het
Gm3486	T	C	14: 41,208,318 (GRCm39)	Q131R	possibly damaging	Het
Gnptab	A	G	10: 88,268,350 (GRCm39)	N486D	probably benign	Het
H2-Q4	T	G	17: 35,601,909 (GRCm39)	F257C	probably damaging	Het
Hfe	A	G	13: 23,890,119 (GRCm39)	V218A	probably benign	Het
Htr2b	A	G	1: 86,027,294 (GRCm39)	V404A	probably benign	Het
Hyou1	T	A	9: 44,300,926 (GRCm39)		probably null	Het
Ikbkb	T	C	8: 23,150,444 (GRCm39)	D746G	probably benign	Het
Ikzf4	T	C	10: 128,472,623 (GRCm39)	N251S	probably benign	Het
Il23r	A	C	6: 67,403,592 (GRCm39)	N436K	probably damaging	Het
Impg2	A	T	16: 56,072,470 (GRCm39)	I301L	probably benign	Het
Irf4	A	T	13: 30,936,706 (GRCm39)	M146L	probably benign	Het
Iws1	G	A	18: 32,213,213 (GRCm39)	E214K	possibly damaging	Het
Kctd3	T	C	1: 188,704,777 (GRCm39)	S665G	probably damaging	Het
Kiz	T	C	2: 146,794,927 (GRCm39)	S596P	probably damaging	Het
Kpna2	T	C	11: 106,880,292 (GRCm39)	E452G	probably damaging	Het
Lclat1	A	G	17: 73,468,937 (GRCm39)	Y39C	probably damaging	Het
Lig3	A	G	11: 82,686,971 (GRCm39)	S705G	probably benign	Het
Lrp1b	T	C	2: 40,748,438 (GRCm39)	D3134G		Het
Map3k8	C	T	18: 4,349,170 (GRCm39)	M49I	probably benign	Het
Mep1b	A	G	18: 21,209,431 (GRCm39)	D54G	probably damaging	Het
Mgat5b	T	A	11: 116,857,533 (GRCm39)	S342R	probably benign	Het
Mthfd2l	G	T	5: 91,109,172 (GRCm39)	V201L	possibly damaging	Het
Naip6	G	T	13: 100,437,893 (GRCm39)	T371K	possibly damaging	Het
Naxd	T	C	8: 11,555,504 (GRCm39)	I104T	probably damaging	Het
Nbeal2	T	A	9: 110,456,916 (GRCm39)	I2361F	probably benign	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Or1e17	A	G	11: 73,831,470 (GRCm39)	T133A	probably benign	Het
Or6c75	A	T	10: 129,337,364 (GRCm39)	M196L	probably benign	Het
Or8b8	A	G	9: 37,808,712 (GRCm39)	E4G	probably benign	Het
Or8c16	T	G	9: 38,130,683 (GRCm39)	L185R	probably damaging	Het
Pga5	C	T	19: 10,646,897 (GRCm39)	G303S	probably damaging	Het
Polq	T	C	16: 36,862,252 (GRCm39)	F591L	probably damaging	Het
Ppp2r1a	A	T	17: 21,185,499 (GRCm39)		probably null	Het
Prrc1	A	G	18: 57,522,317 (GRCm39)	Y383C	probably damaging	Het
Ptgfr	A	T	3: 151,541,160 (GRCm39)	V116D	probably damaging	Het
Qpctl	C	T	7: 18,878,599 (GRCm39)	R292Q	possibly damaging	Het
Rasip1	G	A	7: 45,278,280 (GRCm39)	V194M	possibly damaging	Het
Rbbp4	A	T	4: 129,211,498 (GRCm39)	N385K	probably benign	Het
Rbbp8nl	A	G	2: 179,921,053 (GRCm39)	S444P	probably benign	Het
Resf1	T	C	6: 149,236,180 (GRCm39)	F1500S	probably damaging	Het
Sf3a1	G	A	11: 4,110,494 (GRCm39)	A3T	unknown	Het
Slc1a4	A	G	11: 20,282,025 (GRCm39)	S150P	probably damaging	Het
Slc28a2	T	C	2: 122,281,522 (GRCm39)		probably null	Het
Slc30a5	A	G	13: 100,940,380 (GRCm39)	I702T	probably benign	Het
Slc36a4	T	A	9: 15,633,319 (GRCm39)		probably null	Het
Slf2	A	G	19: 44,931,957 (GRCm39)	R671G	probably null	Het
Smarcc1	A	G	9: 110,035,220 (GRCm39)	K881R	probably null	Het
Tcn2	T	C	11: 3,873,446 (GRCm39)	N300S	probably damaging	Het
Tecta	T	C	9: 42,249,147 (GRCm39)	K1905R	probably damaging	Het
Tex30	T	G	1: 44,130,753 (GRCm39)		probably null	Het
Tktl2	A	T	8: 66,965,974 (GRCm39)	I511F	possibly damaging	Het
Tpp1	G	T	7: 105,398,881 (GRCm39)	Q183K	probably benign	Het
Trib2	A	C	12: 15,865,413 (GRCm39)	I30R	probably benign	Het
Tti1	A	G	2: 157,842,692 (GRCm39)	L779P	probably benign	Het
Unc13b	CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	4: 43,177,312 (GRCm39)		probably benign	Het
Unc13b	GAGCCA	GAGCCATAGCCA	4: 43,177,313 (GRCm39)		probably null	Het
Vmn2r112	A	G	17: 22,822,479 (GRCm39)	T386A	probably damaging	Het
Vps16	T	C	2: 130,283,823 (GRCm39)		probably null	Het
Zan	T	G	5: 137,434,745 (GRCm39)	N2186T	unknown	Het
Zdhhc11	C	T	13: 74,121,800 (GRCm39)	R104*	probably null	Het
Zfp318	T	G	17: 46,721,284 (GRCm39)	H1176Q	probably damaging	Het
Zfp335	G	A	2: 164,742,242 (GRCm39)	H581Y	probably damaging	Het
Zfp7	T	C	15: 76,775,674 (GRCm39)	I572T	probably damaging	Het
Zfp955a	T	C	17: 33,461,335 (GRCm39)	T266A	probably benign	Het

Other mutations in Srsf11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01598:Srsf11	APN	3	157,717,672 (GRCm39)	unclassified	probably benign
IGL01600:Srsf11	APN	3	157,725,079 (GRCm39)	splice site	probably benign
IGL02724:Srsf11	APN	3	157,722,068 (GRCm39)	unclassified	probably benign
IGL03147:Srsf11	UTSW	3	157,732,377 (GRCm39)	missense	probably damaging	1.00
R0195:Srsf11	UTSW	3	157,742,172 (GRCm39)	unclassified	probably benign
R0578:Srsf11	UTSW	3	157,717,704 (GRCm39)	unclassified	probably benign
R0580:Srsf11	UTSW	3	157,717,704 (GRCm39)	unclassified	probably benign
R1075:Srsf11	UTSW	3	157,718,427 (GRCm39)	intron	probably benign
R1604:Srsf11	UTSW	3	157,724,948 (GRCm39)	critical splice donor site	probably null
R1797:Srsf11	UTSW	3	157,725,065 (GRCm39)	missense	possibly damaging	0.92
R1815:Srsf11	UTSW	3	157,722,064 (GRCm39)	unclassified	probably benign
R1899:Srsf11	UTSW	3	157,737,217 (GRCm39)	unclassified	probably benign
R2105:Srsf11	UTSW	3	157,724,982 (GRCm39)	missense	probably damaging	0.99
R4605:Srsf11	UTSW	3	157,728,560 (GRCm39)	nonsense	probably null
R4655:Srsf11	UTSW	3	157,728,972 (GRCm39)	missense	probably benign	0.15
R4737:Srsf11	UTSW	3	157,732,369 (GRCm39)	nonsense	probably null
R5244:Srsf11	UTSW	3	157,728,981 (GRCm39)	unclassified	probably benign
R5245:Srsf11	UTSW	3	157,728,981 (GRCm39)	unclassified	probably benign
R5379:Srsf11	UTSW	3	157,728,981 (GRCm39)	unclassified	probably benign
R5401:Srsf11	UTSW	3	157,728,981 (GRCm39)	unclassified	probably benign
R5625:Srsf11	UTSW	3	157,728,981 (GRCm39)	unclassified	probably benign
R5763:Srsf11	UTSW	3	157,728,981 (GRCm39)	unclassified	probably benign
R5814:Srsf11	UTSW	3	157,728,981 (GRCm39)	unclassified	probably benign
R5938:Srsf11	UTSW	3	157,728,981 (GRCm39)	unclassified	probably benign
R5944:Srsf11	UTSW	3	157,728,981 (GRCm39)	unclassified	probably benign
R5945:Srsf11	UTSW	3	157,728,981 (GRCm39)	unclassified	probably benign
R6126:Srsf11	UTSW	3	157,728,981 (GRCm39)	unclassified	probably benign
R6175:Srsf11	UTSW	3	157,728,981 (GRCm39)	unclassified	probably benign
R6427:Srsf11	UTSW	3	157,728,981 (GRCm39)	unclassified	probably benign
R6435:Srsf11	UTSW	3	157,728,981 (GRCm39)	unclassified	probably benign
R6436:Srsf11	UTSW	3	157,728,981 (GRCm39)	unclassified	probably benign
R6614:Srsf11	UTSW	3	157,728,981 (GRCm39)	unclassified	probably benign
R6616:Srsf11	UTSW	3	157,728,981 (GRCm39)	unclassified	probably benign
R7615:Srsf11	UTSW	3	157,722,062 (GRCm39)	missense	unknown
R8787:Srsf11	UTSW	3	157,718,037 (GRCm39)	missense	unknown
R9547:Srsf11	UTSW	3	157,717,735 (GRCm39)	missense	unknown
X0017:Srsf11	UTSW	3	157,721,986 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- CTTCGTGGTGATCATCCCCG -3'
(R):5'- AAGACCTGTTGCTCACTTAGG -3'

Sequencing Primer
(F):5'- CGTTCACTTTGGACTCTCGAAGG -3'
(R):5'- ACTGTCAGGAGTTTTTGCAAAGC -3'

Posted On

2022-04-18